DHDDS

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: The protein encoded by this gene catalyzes cis-prenyl chain elongation to produce the polyprenyl backbone of dolichol, a glycosyl carrier lipid required for the biosynthesis of several classes of glycoproteins. Mutations in this gene are associated with retinitis pigmentosa type 59. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1COPI coating of Golgi vesicle (GO:0048205)6.28683679
2Golgi transport vesicle coating (GO:0048200)6.28683679
3protein maturation by protein folding (GO:0022417)4.79660718
4maintenance of protein localization in endoplasmic reticulum (GO:0035437)4.65546560
5positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.63558697
6cerebellar Purkinje cell layer development (GO:0021680)4.55218252
7low-density lipoprotein particle clearance (GO:0034383)4.39117274
8protein retention in ER lumen (GO:0006621)4.34074554
9regulation of short-term neuronal synaptic plasticity (GO:0048172)4.29082253
10neuromuscular process controlling posture (GO:0050884)4.26884018
11activation of signaling protein activity involved in unfolded protein response (GO:0006987)4.26872588
12retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)4.24924844
13positive regulation of synaptic transmission, dopaminergic (GO:0032226)4.18231966
14cellular ketone body metabolic process (GO:0046950)4.14965077
15rRNA methylation (GO:0031167)4.08764821
16positive regulation of nuclease activity (GO:0032075)4.06439663
17rRNA modification (GO:0000154)3.99366007
18regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022353.98246123
19synaptic vesicle maturation (GO:0016188)3.94099822
20transcytosis (GO:0045056)3.90754369
21cytochrome complex assembly (GO:0017004)3.75314924
22ketone body metabolic process (GO:1902224)3.73208305
23respiratory chain complex IV assembly (GO:0008535)3.69107432
24nucleotide-sugar biosynthetic process (GO:0009226)3.65502888
25regulation of synaptic vesicle exocytosis (GO:2000300)3.63905519
26UDP-N-acetylglucosamine metabolic process (GO:0006047)3.62059943
27lactate metabolic process (GO:0006089)3.61906002
28regulation of nuclease activity (GO:0032069)3.61864330
29synaptic vesicle docking involved in exocytosis (GO:0016081)3.57911013
30synaptic vesicle exocytosis (GO:0016079)3.51365926
31positive regulation of glycolytic process (GO:0045821)3.51055007
32endoplasmic reticulum unfolded protein response (GO:0030968)3.50746084
33glutamate secretion (GO:0014047)3.50469928
34keratan sulfate catabolic process (GO:0042340)3.48942512
35regulation of synaptic vesicle transport (GO:1902803)3.47021979
36fatty acid homeostasis (GO:0055089)3.43022727
37sphingomyelin metabolic process (GO:0006684)3.41464514
38positive regulation of glycoprotein biosynthetic process (GO:0010560)3.37896015
39ER-nucleus signaling pathway (GO:0006984)3.37593529
40triglyceride catabolic process (GO:0019433)3.37322922
41cellular response to unfolded protein (GO:0034620)3.36937124
42negative regulation of protein autophosphorylation (GO:0031953)3.34350948
43cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.33909895
44vesicle coating (GO:0006901)3.33336056
45cellular response to topologically incorrect protein (GO:0035967)3.31818288
46protein heterotrimerization (GO:0070208)3.28808000
47endocrine pancreas development (GO:0031018)3.28231852
48lipid storage (GO:0019915)3.26571794
49keratinocyte development (GO:0003334)3.25780268
50cellular response to glucagon stimulus (GO:0071377)3.21657352
51regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.20790966
52neurotransmitter secretion (GO:0007269)3.20591713
53exocrine pancreas development (GO:0031017)3.19704446
54lipid particle organization (GO:0034389)3.19288375
55positive regulation of glycoprotein metabolic process (GO:1903020)3.18315315
56response to pheromone (GO:0019236)3.17700994
57insulin secretion (GO:0030073)3.17240455
58activation of protein kinase A activity (GO:0034199)3.16259243
59peptide hormone processing (GO:0016486)3.14938188
60regulation of type B pancreatic cell apoptotic process (GO:2000674)3.11470315
61positive regulation of insulin secretion (GO:0032024)3.09535191
62ovulation from ovarian follicle (GO:0001542)3.08993764
63proteasome assembly (GO:0043248)3.08802937
64ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)3.08261517
65GDP-mannose metabolic process (GO:0019673)3.06041746
66regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)3.05979442
67* dolichol-linked oligosaccharide biosynthetic process (GO:0006488)3.05515447
68neutral lipid catabolic process (GO:0046461)3.04046881
69acylglycerol catabolic process (GO:0046464)3.04046881
70fat-soluble vitamin biosynthetic process (GO:0042362)3.02904086
71cellular response to vitamin (GO:0071295)3.00543291
72retinol metabolic process (GO:0042572)2.94290944
73detection of calcium ion (GO:0005513)2.93920707
74sequestering of metal ion (GO:0051238)2.93913563
75positive regulation of excitatory postsynaptic membrane potential (GO:2000463)2.93780709
76locomotory exploration behavior (GO:0035641)2.90831022
77proline transport (GO:0015824)2.88920841
78L-serine transport (GO:0015825)2.88082893
79cell communication by electrical coupling (GO:0010644)2.88063103
80oxaloacetate metabolic process (GO:0006107)2.87116207
81peptidyl-histidine modification (GO:0018202)2.85088436
82membrane repolarization during cardiac muscle cell action potential (GO:0086013)2.84493140
83regulation of insulin secretion (GO:0050796)2.83555084
84COPII vesicle coating (GO:0048208)2.82396876
85negative regulation of phosphoprotein phosphatase activity (GO:0032515)2.80506856
86regulation of integrin-mediated signaling pathway (GO:2001044)2.80350849
87arginine catabolic process (GO:0006527)2.79212206
88positive regulation of exocytosis (GO:0045921)2.76719193
89response to dietary excess (GO:0002021)2.76706281
90response to ischemia (GO:0002931)2.75875274
91positive regulation of glomerulus development (GO:0090193)2.75623290
92CDP-diacylglycerol biosynthetic process (GO:0016024)2.72676668
93protein complex biogenesis (GO:0070271)2.70507424
94neuronal action potential propagation (GO:0019227)2.69961129
95regulation of mitochondrial translation (GO:0070129)2.67730446
96single strand break repair (GO:0000012)2.67684623
97nucleoside salvage (GO:0043174)2.66642641
98peptidyl-cysteine modification (GO:0018198)2.66619031
99macroautophagy (GO:0016236)2.65765106
100type B pancreatic cell proliferation (GO:0044342)2.65232373
101response to endoplasmic reticulum stress (GO:0034976)2.64954487
102signal peptide processing (GO:0006465)2.64893685
103positive regulation of peptide secretion (GO:0002793)2.64182952
104positive regulation of neurotransmitter transport (GO:0051590)2.63919965
105response to glucagon (GO:0033762)2.63907026
106toxin metabolic process (GO:0009404)2.62490488
107glycerolipid catabolic process (GO:0046503)2.62164271
108negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)2.62151042
109cullin deneddylation (GO:0010388)2.61553883
110fibroblast migration (GO:0010761)2.61531080
111positive regulation of peptide hormone secretion (GO:0090277)2.61234485
112positive regulation of protein autophosphorylation (GO:0031954)2.60606023
113pyrimidine-containing compound salvage (GO:0008655)2.60576345
114pyrimidine nucleoside salvage (GO:0043097)2.60576345
115chemosensory behavior (GO:0007635)2.59293297
116vocalization behavior (GO:0071625)2.59164219
117intra-Golgi vesicle-mediated transport (GO:0006891)2.58140654
118regulation of peptide hormone secretion (GO:0090276)2.56815164
119regulation of autophagic vacuole assembly (GO:2000785)2.56608733
120regulation of oxidative phosphorylation (GO:0002082)2.56570401
121sodium ion export (GO:0071436)2.56075966
122regulation of peptide secretion (GO:0002791)2.55618727
123branched-chain amino acid catabolic process (GO:0009083)2.55540064
124membrane repolarization during action potential (GO:0086011)2.55229500
125mitochondrial respiratory chain complex assembly (GO:0033108)2.54463489
126regulation of synaptic transmission, dopaminergic (GO:0032225)2.54112778
127regulation of ARF protein signal transduction (GO:0032012)2.53693108
128heparin biosynthetic process (GO:0030210)2.53508169
129heparin metabolic process (GO:0030202)2.53508169
130plasma lipoprotein particle clearance (GO:0034381)2.52947274
131glycine transport (GO:0015816)2.52425315
132neurotransmitter transport (GO:0006836)2.52170542
133regulation of neuronal synaptic plasticity (GO:0048168)2.52064995
134water-soluble vitamin biosynthetic process (GO:0042364)2.51892674
135nitric oxide mediated signal transduction (GO:0007263)2.51296789
136signal release (GO:0023061)2.49195545
137negative regulation of gluconeogenesis (GO:0045721)2.48891202
138* protein N-linked glycosylation via asparagine (GO:0018279)2.48814008
139NADH metabolic process (GO:0006734)2.48586583
140response to parathyroid hormone (GO:0071107)2.48439492
141growth hormone secretion (GO:0030252)2.47516588
142* peptidyl-asparagine modification (GO:0018196)2.47017289
143peptide hormone secretion (GO:0030072)2.46825824
144nucleotide-sugar metabolic process (GO:0009225)2.46800982
145regulation of amyloid precursor protein catabolic process (GO:1902991)2.46676408
146erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)2.46069082
147L-phenylalanine catabolic process (GO:0006559)2.46069082
148protein deneddylation (GO:0000338)2.45839723
149synaptic vesicle endocytosis (GO:0048488)2.45697979
150negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.44764821
151alanine transport (GO:0032328)2.44161596
152peptide secretion (GO:0002790)2.43508175
153ER to Golgi vesicle-mediated transport (GO:0006888)2.43357358
154L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.43074769
155positive regulation of membrane potential (GO:0045838)2.42730714
156response to unfolded protein (GO:0006986)2.41855043
157positive regulation of vesicle fusion (GO:0031340)2.41409561
158response to topologically incorrect protein (GO:0035966)2.40872667
159aggressive behavior (GO:0002118)2.40212754
160regulation of calcium ion-dependent exocytosis (GO:0017158)2.40088803
161potassium ion import (GO:0010107)2.39569148
162positive regulation of actin filament depolymerization (GO:0030836)2.38644064
163white fat cell differentiation (GO:0050872)2.38308059
164G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.37851847
165sphingolipid catabolic process (GO:0030149)2.37673302
166negative regulation of JAK-STAT cascade (GO:0046426)2.37178684
167ER overload response (GO:0006983)2.37111754
168lipopolysaccharide biosynthetic process (GO:0009103)2.36697721
169regulation of ER to Golgi vesicle-mediated transport (GO:0060628)2.35951882
170cerebellar Purkinje cell differentiation (GO:0021702)2.35867954
171tricarboxylic acid metabolic process (GO:0072350)2.34991387
172inositol phosphate-mediated signaling (GO:0048016)2.34220267
173regulation of transforming growth factor beta1 production (GO:0032908)2.34179802
174serine transport (GO:0032329)2.34100102
175triglyceride biosynthetic process (GO:0019432)2.33864614
176regulation of protein autophosphorylation (GO:0031952)2.31941604
177CDP-diacylglycerol metabolic process (GO:0046341)2.30787990
178regulation of metalloenzyme activity (GO:0048552)2.30747850
179endosome to pigment granule transport (GO:0043485)2.30458912
180endosome to melanosome transport (GO:0035646)2.30458912
181phasic smooth muscle contraction (GO:0014821)2.28793290
182acylglycerol biosynthetic process (GO:0046463)2.28081677
183neutral lipid biosynthetic process (GO:0046460)2.28081677
184DNA deamination (GO:0045006)2.27780396
185nucleoside transmembrane transport (GO:1901642)2.27371836
186fatty acid elongation (GO:0030497)2.26896793
187fatty-acyl-CoA biosynthetic process (GO:0046949)2.23751279
188mannosylation (GO:0097502)2.23260469
189regulation of sequestering of triglyceride (GO:0010889)2.22641761
190zinc ion transport (GO:0006829)2.20572014
191response to lipoprotein particle (GO:0055094)2.20143380
192purine ribonucleoside bisphosphate metabolic process (GO:0034035)2.20002056
1933-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)2.20002056
194inositol phosphate catabolic process (GO:0071545)2.19820675

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.82091722
2EZH2_22144423_ChIP-Seq_EOC_Human3.63458173
3TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.37440073
4NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.37204120
5PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse3.31597727
6* JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.84105946
7GABP_17652178_ChIP-ChIP_JURKAT_Human2.81242030
8RARB_27405468_Chip-Seq_BRAIN_Mouse2.75556619
9* REST_18959480_ChIP-ChIP_MESCs_Mouse2.72597199
10SRF_21415370_ChIP-Seq_HL-1_Mouse2.71377946
11CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.65593891
12CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human2.51049631
13ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.49385914
14* REST_21632747_ChIP-Seq_MESCs_Mouse2.48366986
15ZNF274_21170338_ChIP-Seq_K562_Hela2.45560464
16SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.22685791
17DROSHA_22980978_ChIP-Seq_HELA_Human2.19791551
18SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.18188379
19SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.06845810
20MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.06412652
21DNAJC2_21179169_ChIP-ChIP_NT2_Human2.01328336
22NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.97721770
23SUZ12_27294783_Chip-Seq_ESCs_Mouse1.95673351
24RXR_22158963_ChIP-Seq_LIVER_Mouse1.93235210
25HIF1A_21447827_ChIP-Seq_MCF-7_Human1.92882064
26ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.92604180
27MTF2_20144788_ChIP-Seq_MESCs_Mouse1.92018427
28ERG_21242973_ChIP-ChIP_JURKAT_Human1.89146083
29EZH2_27294783_Chip-Seq_ESCs_Mouse1.88347089
30SMAD_19615063_ChIP-ChIP_OVARY_Human1.88166820
31TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.86620939
32LXR_22292898_ChIP-Seq_THP-1_Human1.85634098
33* ETS1_20019798_ChIP-Seq_JURKAT_Human1.83827993
34ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.81105520
35PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.77544973
36HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.74711045
37BRD4_25478319_ChIP-Seq_HGPS_Human1.72592400
38EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.71919969
39SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.71291903
40EGR1_23403033_ChIP-Seq_LIVER_Mouse1.70854596
41JARID2_20075857_ChIP-Seq_MESCs_Mouse1.70477904
42GATA1_22025678_ChIP-Seq_K562_Human1.68870107
43SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.65583368
44* TFEB_21752829_ChIP-Seq_HELA_Human1.64846091
45CJUN_26792858_Chip-Seq_BT549_Human1.62653585
46TRIM28_21343339_ChIP-Seq_HEK293_Human1.61825578
47SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.61462000
48PPARA_22158963_ChIP-Seq_LIVER_Mouse1.61218928
49* JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.59316811
50TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.58738572
51EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.56422934
52MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.53808900
53NR3C1_23031785_ChIP-Seq_PC12_Mouse1.53762571
54EST1_17652178_ChIP-ChIP_JURKAT_Human1.53636346
55GBX2_23144817_ChIP-Seq_PC3_Human1.52632564
56JARID2_20064375_ChIP-Seq_MESCs_Mouse1.51670969
57SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.49738132
58RARG_19884340_ChIP-ChIP_MEFs_Mouse1.48976118
59ZFP281_18757296_ChIP-ChIP_E14_Mouse1.47776683
60HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.44924210
61RNF2_18974828_ChIP-Seq_MESCs_Mouse1.44579741
62EZH2_18974828_ChIP-Seq_MESCs_Mouse1.44579741
63ELK1_22589737_ChIP-Seq_MCF10A_Human1.44404633
64SALL1_21062744_ChIP-ChIP_HESCs_Human1.44330147
65KDM2B_26808549_Chip-Seq_K562_Human1.43726314
66DCP1A_22483619_ChIP-Seq_HELA_Human1.42200784
67PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.41197521
68JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.40662091
69THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.40265500
70* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.40158454
71CTCF_27219007_Chip-Seq_Bcells_Human1.40127473
72GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.39946657
73* SMC4_20622854_ChIP-Seq_HELA_Human1.39572323
74DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.39109731
75SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.38868598
76GATA2_21666600_ChIP-Seq_HMVEC_Human1.35677951
77LXR_22158963_ChIP-Seq_LIVER_Mouse1.35626274
78ELK1_19687146_ChIP-ChIP_HELA_Human1.35010990
79OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.30536176
80EZH2_27304074_Chip-Seq_ESCs_Mouse1.28879106
81TET1_21490601_ChIP-Seq_MESCs_Mouse1.28158297
82CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.26695917
83NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.25591435
84FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.24076517
85RNF2_27304074_Chip-Seq_ESCs_Mouse1.23323705
86IKZF1_21737484_ChIP-ChIP_HCT116_Human1.21980257
87EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.21947955
88* SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.19776102
89* GABP_19822575_ChIP-Seq_HepG2_Human1.18377337
90CDX2_22108803_ChIP-Seq_LS180_Human1.17663890
91* HNFA_21074721_ChIP-Seq_CACO-2_Human1.17567866
92* PHF8_20622853_ChIP-Seq_HELA_Human1.16542343
93* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.15340922
94GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.14952625
95ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.14875170
96BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.13656508
97SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.13258731
98SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.13258731
99TP53_22127205_ChIP-Seq_IMR90_Human1.12871650
100E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.12125287
101* RBPJ_21746931_ChIP-Seq_IB4_Human1.11073007
102P68_20966046_ChIP-Seq_HELA_Human1.10491226
103NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.10353483
104GATA1_19941827_ChIP-Seq_MEL_Mouse1.09672808
105POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.09081163
106PPARG_20887899_ChIP-Seq_3T3-L1_Mouse1.08771303
107* DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.08549544
108TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.07537497
109SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.07357463
110* CDX2_21074721_ChIP-Seq_CACO-2_Mouse1.07292837
111CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.06548466
112EOMES_21245162_ChIP-Seq_HESCs_Human1.05593471
113CREB1_15753290_ChIP-ChIP_HEK293T_Human1.05281477
114CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.04806511
115FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.03896868
116* VDR_23849224_ChIP-Seq_CD4+_Human1.03799140
117* GATA6_21074721_ChIP-Seq_CACO-2_Human1.03368513
118PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.02552894
119PADI4_21655091_ChIP-ChIP_MCF-7_Human1.02145771
120* GATA6_21074721_ChIP-Seq_CACO-2_Mouse1.01529988
121RING1B_27294783_Chip-Seq_ESCs_Mouse1.01414080
122FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.01287016
123BCAT_22108803_ChIP-Seq_LS180_Human1.00710801
124ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.00416231
125KDM2B_26808549_Chip-Seq_SUP-B15_Human1.00146319
126AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.98597054
127* ERA_21632823_ChIP-Seq_H3396_Human0.98341088
128NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.98252764
129SUZ12_27294783_Chip-Seq_NPCs_Mouse0.96735687
130CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.96493955
131NFE2_27457419_Chip-Seq_LIVER_Mouse0.96076200
132ATF3_27146783_Chip-Seq_COLON_Human0.95890875
133RAC3_21632823_ChIP-Seq_H3396_Human0.95646627
134SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.94977951
135* NFYB_21822215_ChIP-Seq_K562_Human0.94950108
136KDM2B_26808549_Chip-Seq_DND41_Human0.94863757
137* CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.94769651
138LDB1_21186366_ChIP-Seq_BM-HSCs_Mouse0.94600212
139* TET1_21451524_ChIP-Seq_MESCs_Mouse0.94418322
140CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.94298443
141VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.94123789
142ELF1_20517297_ChIP-Seq_JURKAT_Human0.93413592
143* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.93225984
144CREB1_26743006_Chip-Seq_LNCaP_Human0.93217361
145SOX2_21211035_ChIP-Seq_LN229_Gbm0.92628549
146GATA1_19941826_ChIP-Seq_K562_Human0.92614322
147MYC_22102868_ChIP-Seq_BL_Human0.92515982
148* PCGF4_22325352_ChIP-Seq_293T-Rex_Human0.92104125
149PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.91094015
150KLF4_19829295_ChIP-Seq_ESCs_Human0.90430923
151* E2F1_18555785_ChIP-Seq_MESCs_Mouse0.89219595
152CTCF_20526341_ChIP-Seq_ESCs_Human0.88771755
153SOX2_20726797_ChIP-Seq_SW620_Human0.88388749
154IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.88280491
155CBP_20019798_ChIP-Seq_JUKART_Human0.88280491
156MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.88276615
157* ZFP57_27257070_Chip-Seq_ESCs_Mouse0.87997961
158FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.87500433
159CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.87449202
160* CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.86537180
161WT1_25993318_ChIP-Seq_PODOCYTE_Human0.86241749
162* NFYA_21822215_ChIP-Seq_K562_Human0.86166408
163ELF5_23300383_ChIP-Seq_T47D_Human0.85946891
164PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.84792145
165PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.84018873
166TCF7L2_21901280_ChIP-Seq_H4IIE_Rat0.83358293
167* AR_19668381_ChIP-Seq_PC3_Human0.83236299
168P53_21459846_ChIP-Seq_SAOS-2_Human0.83131749
169PHF8_20622854_ChIP-Seq_HELA_Human0.82852517
170BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.82282778
171GATA3_21878914_ChIP-Seq_MCF-7_Human0.82156603
172NOTCH1_21737748_ChIP-Seq_TLL_Human0.81715593
173FOXA2_19822575_ChIP-Seq_HepG2_Human0.81668942
174SOX2_19829295_ChIP-Seq_ESCs_Human0.81427497
175NANOG_19829295_ChIP-Seq_ESCs_Human0.81427497
176LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.81229239
177MYC_19829295_ChIP-Seq_ESCs_Human0.81024641
178CBP_21632823_ChIP-Seq_H3396_Human0.80984623
179THAP11_20581084_ChIP-Seq_MESCs_Mouse0.80710250
180* TBX5_21415370_ChIP-Seq_HL-1_Mouse0.80368617
181YY1_22570637_ChIP-Seq_MALME-3M_Human0.79211766
182* TBL1_22424771_ChIP-Seq_293T_Human0.78658185
183WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.78515000
184FOXP1_21924763_ChIP-Seq_HESCs_Human0.78409307
185STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.78343721

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005670_abnormal_white_adipose4.82133113
2MP0008438_abnormal_cutaneous_collagen3.75963067
3MP0002254_reproductive_system_inflammat3.69595573
4MP0002909_abnormal_adrenal_gland3.61890830
5MP0004859_abnormal_synaptic_plasticity3.57875763
6MP0009840_abnormal_foam_cell3.41903865
7MP0002837_dystrophic_cardiac_calcinosis2.89402655
8MP0003011_delayed_dark_adaptation2.74695898
9MP0009780_abnormal_chondrocyte_physiolo2.67939864
10MP0003195_calcinosis2.58521229
11MP0006054_spinal_hemorrhage2.52357257
12MP0002877_abnormal_melanocyte_morpholog2.49082430
13MP0004043_abnormal_pH_regulation2.42761453
14MP0003635_abnormal_synaptic_transmissio2.42330944
15MP0002693_abnormal_pancreas_physiology2.33209835
16MP0003303_peritoneal_inflammation2.32135991
17MP0001944_abnormal_pancreas_morphology2.26725247
18MP0004270_analgesia2.16988204
19MP0003183_abnormal_peptide_metabolism2.14315309
20MP0003186_abnormal_redox_activity2.12768782
21MP0005375_adipose_tissue_phenotype2.12542246
22MP0005220_abnormal_exocrine_pancreas2.11902785
23MP0003950_abnormal_plasma_membrane2.08381227
24MP0001986_abnormal_taste_sensitivity2.07996336
25MP0003283_abnormal_digestive_organ2.06424181
26MP0002971_abnormal_brown_adipose2.03069770
27MP0002139_abnormal_hepatobiliary_system2.00583329
28MP0003172_abnormal_lysosome_physiology2.00247177
29MP0005365_abnormal_bile_salt1.99240766
30MP0000013_abnormal_adipose_tissue1.97301157
31MP0004272_abnormal_basement_membrane1.90324163
32MP0002064_seizures1.89865072
33MP0003279_aneurysm1.85769181
34MP0005410_abnormal_fertilization1.83395550
35MP0010386_abnormal_urinary_bladder1.82242801
36MP0008961_abnormal_basal_metabolism1.81285064
37MP0001661_extended_life_span1.80282852
38MP0002063_abnormal_learning/memory/cond1.80011607
39MP0001501_abnormal_sleep_pattern1.79856458
40MP0009745_abnormal_behavioral_response1.78732331
41MP0005275_abnormal_skin_tensile1.73758340
42MP0000569_abnormal_digit_pigmentation1.71254261
43MP0002734_abnormal_mechanical_nocicepti1.70918643
44MP0002078_abnormal_glucose_homeostasis1.70660891
45MP0005174_abnormal_tail_pigmentation1.68257676
46MP0002733_abnormal_thermal_nociception1.65335782
47MP0000678_abnormal_parathyroid_gland1.62641966
48MP0005257_abnormal_intraocular_pressure1.60393941
49MP0002295_abnormal_pulmonary_circulatio1.58822292
50MP0006036_abnormal_mitochondrial_physio1.58637119
51MP0005645_abnormal_hypothalamus_physiol1.56557348
52MP0005535_abnormal_body_temperature1.54515142
53MP0005503_abnormal_tendon_morphology1.52375520
54MP0003880_abnormal_central_pattern1.51022378
55MP0002272_abnormal_nervous_system1.50451870
56MP0005666_abnormal_adipose_tissue1.50418903
57MP0003329_amyloid_beta_deposits1.48873421
58MP0002572_abnormal_emotion/affect_behav1.48770428
59MP0001968_abnormal_touch/_nociception1.47973678
60MP0006276_abnormal_autonomic_nervous1.47750869
61MP0003959_abnormal_lean_body1.45738293
62MP0002970_abnormal_white_adipose1.45566654
63MP0002735_abnormal_chemical_nociception1.45095100
64MP0003879_abnormal_hair_cell1.43915571
65MP0005171_absent_coat_pigmentation1.43591741
66MP0001970_abnormal_pain_threshold1.39626040
67MP0004811_abnormal_neuron_physiology1.38872168
68MP0004858_abnormal_nervous_system1.34630793
69MP0004215_abnormal_myocardial_fiber1.33965690
70MP0005379_endocrine/exocrine_gland_phen1.33320875
71MP0005083_abnormal_biliary_tract1.32810521
72MP0005423_abnormal_somatic_nervous1.32379799
73MP0003122_maternal_imprinting1.32257563
74MP0005360_urolithiasis1.30284082
75MP0002060_abnormal_skin_morphology1.29853878
76MP0001765_abnormal_ion_homeostasis1.29354414
77MP0010329_abnormal_lipoprotein_level1.28735733
78MP0009115_abnormal_fat_cell1.28582698
79MP0003806_abnormal_nucleotide_metabolis1.28022264
80MP0005085_abnormal_gallbladder_physiolo1.25998680
81MP0005646_abnormal_pituitary_gland1.24740241
82MP0002822_catalepsy1.21806779
83MP0008875_abnormal_xenobiotic_pharmacok1.20756574
84MP0003786_premature_aging1.20687308
85MP0000015_abnormal_ear_pigmentation1.20542632
86MP0003953_abnormal_hormone_level1.19914654
87MP0002736_abnormal_nociception_after1.19743267
88MP0004924_abnormal_behavior1.18553595
89MP0005386_behavior/neurological_phenoty1.18553595
90MP0003868_abnormal_feces_composition1.14542833
91MP0002638_abnormal_pupillary_reflex1.14480921
92MP0001666_abnormal_nutrient_absorption1.13877381
93MP0009046_muscle_twitch1.13732121
94MP0002067_abnormal_sensory_capabilities1.12880374
95MP0005452_abnormal_adipose_tissue1.11535286
96MP0005551_abnormal_eye_electrophysiolog1.11402969
97MP0001502_abnormal_circadian_rhythm1.11147751
98MP0005058_abnormal_lysosome_morphology1.11110510
99MP0003191_abnormal_cellular_cholesterol1.09678481
100MP0002876_abnormal_thyroid_physiology1.09667110
101MP0002938_white_spotting1.07836165
102MP0003646_muscle_fatigue1.07499777
103MP0004130_abnormal_muscle_cell1.06486175
104MP0001764_abnormal_homeostasis1.06143844
105MP0003300_gastrointestinal_ulcer1.05349222
106MP0003941_abnormal_skin_development1.05005322
107MP0005084_abnormal_gallbladder_morpholo1.04679219
108MP0000358_abnormal_cell_content/1.04646850
109MP0001542_abnormal_bone_strength1.04080910
110MP0004782_abnormal_surfactant_physiolog1.03715018
111MP0003252_abnormal_bile_duct1.02903781
112MP0010234_abnormal_vibrissa_follicle1.02511149
113MP0002069_abnormal_eating/drinking_beha1.02443597
114MP0003633_abnormal_nervous_system1.02103706
115MP0003718_maternal_effect1.00835211
116MP0002928_abnormal_bile_duct1.00584637
117MP0000003_abnormal_adipose_tissue1.00582480
118MP0002234_abnormal_pharynx_morphology1.00214029
119MP0001243_abnormal_dermal_layer1.00135435
120MP0006035_abnormal_mitochondrial_morpho0.99799181
121MP0000647_abnormal_sebaceous_gland0.99126783
122MP0008569_lethality_at_weaning0.98196348
123MP0000955_abnormal_spinal_cord0.97087219
124MP0000230_abnormal_systemic_arterial0.97064861
125MP0006072_abnormal_retinal_apoptosis0.96657415
126MP0010368_abnormal_lymphatic_system0.95158394
127MP0001958_emphysema0.95095123
128MP0005332_abnormal_amino_acid0.95027020
129MP0009643_abnormal_urine_homeostasis0.94417237
130MP0004085_abnormal_heartbeat0.94235860
131MP0002138_abnormal_hepatobiliary_system0.94148109
132MP0002090_abnormal_vision0.93579192
133MP0002118_abnormal_lipid_homeostasis0.93289686
134MP0005448_abnormal_energy_balance0.93036919
135MP0002557_abnormal_social/conspecific_i0.92735809
136MP0002933_joint_inflammation0.92313656
137MP0001881_abnormal_mammary_gland0.92067229
138MP0001270_distended_abdomen0.91347738
139MP0002229_neurodegeneration0.90887988
140MP0000516_abnormal_urinary_system0.90793845
141MP0005367_renal/urinary_system_phenotyp0.90793845
142MP0000538_abnormal_urinary_bladder0.89955707
143MP0001756_abnormal_urination0.87632603
144MP0000778_abnormal_nervous_system0.87251827
145MP0002066_abnormal_motor_capabilities/c0.87118340
146MP0005636_abnormal_mineral_homeostasis0.87038532
147MP0005310_abnormal_salivary_gland0.85929124
148MP0001440_abnormal_grooming_behavior0.85418500
149MP0001486_abnormal_startle_reflex0.84893874
150MP0002882_abnormal_neuron_morphology0.84273828
151MP0001905_abnormal_dopamine_level0.83358264
152MP0003656_abnormal_erythrocyte_physiolo0.82808268
153MP0008775_abnormal_heart_ventricle0.80480013
154MP0000613_abnormal_salivary_gland0.78837594
155MP0004233_abnormal_muscle_weight0.78759043
156MP0005395_other_phenotype0.78196095
157MP0005253_abnormal_eye_physiology0.77779671
158MP0004084_abnormal_cardiac_muscle0.77596124
159MP0002108_abnormal_muscle_morphology0.76871288
160MP0010307_abnormal_tumor_latency0.76362830
161MP0003045_fibrosis0.76256492
162MP0002168_other_aberrant_phenotype0.75627633
163MP0002163_abnormal_gland_morphology0.75496510
164MP0010352_gastrointestinal_tract_polyps0.75382593
165MP0004019_abnormal_vitamin_homeostasis0.72786017
166MP0001348_abnormal_lacrimal_gland0.72220912
167MP0008007_abnormal_cellular_replicative0.71817364
168MP0005595_abnormal_vascular_smooth0.71696575
169MP0002102_abnormal_ear_morphology0.71649270
170MP0005330_cardiomyopathy0.71276555
171MP0003566_abnormal_cell_adhesion0.68979431
172MP0005023_abnormal_wound_healing0.68815625

Predicted human phenotypes

RankGene SetZ-score
1Elevated circulating parathyroid hormone (PTH) level (HP:0003165)4.89689974
2Visual hallucinations (HP:0002367)4.69664636
3Hyperinsulinemic hypoglycemia (HP:0000825)4.23930475
4Hypoglycemic seizures (HP:0002173)4.07824206
5Focal motor seizures (HP:0011153)3.81646904
6Symptomatic seizures (HP:0011145)3.75070229
7Ketoacidosis (HP:0001993)3.58902536
8Hypoglycemic coma (HP:0001325)3.50502544
9Myokymia (HP:0002411)3.33762277
10Central scotoma (HP:0000603)3.18224935
11Premature rupture of membranes (HP:0001788)3.16413768
12Abnormality of aromatic amino acid family metabolism (HP:0004338)3.16308210
13Pheochromocytoma (HP:0002666)3.16202695
14Insulin resistance (HP:0000855)3.07507311
15Focal seizures (HP:0007359)3.00997914
16Absence seizures (HP:0002121)2.92024373
17Generalized aminoaciduria (HP:0002909)2.90085148
18Popliteal pterygium (HP:0009756)2.89104472
19Abnormality of the pancreatic islet cells (HP:0006476)2.85825258
20Abnormality of endocrine pancreas physiology (HP:0012093)2.85825258
21Neuroendocrine neoplasm (HP:0100634)2.85283597
22Abnormality of liposaccharide metabolism (HP:0010968)2.81059120
23Abnormality of glycosphingolipid metabolism (HP:0004343)2.81059120
24Abnormality of glycolipid metabolism (HP:0010969)2.81059120
25Abnormality of calcium-phosphate metabolism (HP:0100530)2.80545910
26Ketosis (HP:0001946)2.77019963
27Agitation (HP:0000713)2.74744122
28Acute necrotizing encephalopathy (HP:0006965)2.72706213
29Hypokinesia (HP:0002375)2.72000776
30Progressive macrocephaly (HP:0004481)2.70432465
31Late onset (HP:0003584)2.69941963
32Gout (HP:0001997)2.68222402
33Pancreatic islet-cell hyperplasia (HP:0004510)2.63907635
34Papilledema (HP:0001085)2.59670013
35Abnormality of glycolysis (HP:0004366)2.58240343
36Urinary glycosaminoglycan excretion (HP:0003541)2.56051447
37Mucopolysacchariduria (HP:0008155)2.56051447
38Upper limb muscle weakness (HP:0003484)2.55384578
39Bone cyst (HP:0012062)2.51293058
40Insomnia (HP:0100785)2.51184424
41Dialeptic seizures (HP:0011146)2.50540098
42Abnormality of polysaccharide metabolism (HP:0011012)2.49042842
43Abnormality of glycosaminoglycan metabolism (HP:0004371)2.49042842
44Abnormality of mucopolysaccharide metabolism (HP:0011020)2.49042842
45Congenital stationary night blindness (HP:0007642)2.48912453
46Acute encephalopathy (HP:0006846)2.47524920
47Hypoalphalipoproteinemia (HP:0003233)2.46077017
48Supranuclear gaze palsy (HP:0000605)2.46059467
49Testicular neoplasm (HP:0010788)2.44361495
50Facial diplegia (HP:0001349)2.44021414
51Growth hormone excess (HP:0000845)2.42815028
52Hypsarrhythmia (HP:0002521)2.41772575
53Oligomenorrhea (HP:0000876)2.41617108
54Hamartoma of the eye (HP:0010568)2.41610466
55Ventricular fibrillation (HP:0001663)2.40744234
56Abnormal protein glycosylation (HP:0012346)2.39428873
57Abnormal glycosylation (HP:0012345)2.39428873
58Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.39428873
59Abnormal protein N-linked glycosylation (HP:0012347)2.39428873
60Depression (HP:0000716)2.38978390
61Delayed gross motor development (HP:0002194)2.38377730
62Insulin-resistant diabetes mellitus (HP:0000831)2.37939537
63Increased serum pyruvate (HP:0003542)2.37677589
64Type I transferrin isoform profile (HP:0003642)2.37555101
65EEG with generalized epileptiform discharges (HP:0011198)2.36808095
66Hepatic necrosis (HP:0002605)2.36500409
67Attenuation of retinal blood vessels (HP:0007843)2.36364010
68Abnormal mitochondria in muscle tissue (HP:0008316)2.33989013
69Hyperglycemia (HP:0003074)2.33979357
70Mesangial abnormality (HP:0001966)2.33351482
71Acanthosis nigricans (HP:0000956)2.31375648
72Hand muscle atrophy (HP:0009130)2.31351647
73Abnormality of the intrinsic pathway (HP:0010989)2.31204712
74Dysostosis multiplex (HP:0000943)2.31064913
75Epileptiform EEG discharges (HP:0011182)2.30935548
76Bundle branch block (HP:0011710)2.30931221
77Increased CSF lactate (HP:0002490)2.30083069
78Cardiovascular calcification (HP:0011915)2.29402343
79Large for gestational age (HP:0001520)2.25685066
80Vacuolated lymphocytes (HP:0001922)2.25618649
81Follicular hyperkeratosis (HP:0007502)2.25406569
82Generalized tonic-clonic seizures (HP:0002069)2.24109001
83Generalized hyperpigmentation (HP:0007440)2.23794509
84Hypertriglyceridemia (HP:0002155)2.23696682
85Hypophosphatemic rickets (HP:0004912)2.20315611
86Hypothermia (HP:0002045)2.19606333
87Renal Fanconi syndrome (HP:0001994)2.18819164
88Diminished movement (HP:0002374)2.18364263
89Entropion (HP:0000621)2.16134800
90Hypolipoproteinemia (HP:0010981)2.15846178
91Elfin facies (HP:0004428)2.15672552
92Ankle clonus (HP:0011448)2.15633676
93Mitochondrial inheritance (HP:0001427)2.15472764
94Conjugated hyperbilirubinemia (HP:0002908)2.14871296
95White forelock (HP:0002211)2.12689219
96Patchy hypopigmentation of hair (HP:0011365)2.12655590
97Hyperacusis (HP:0010780)2.12058043
98Vascular calcification (HP:0004934)2.11271178
99Menstrual irregularities (HP:0000858)2.10774027
100Abnormal albumin level (HP:0012116)2.10121861
101Hypoalbuminemia (HP:0003073)2.10121861
102Anxiety (HP:0000739)2.09492370
103Albinism (HP:0001022)2.09130014
104Hypercortisolism (HP:0001578)2.08785584
105Torticollis (HP:0000473)2.08172397
106Ileus (HP:0002595)2.07482873
107Cerebral hypomyelination (HP:0006808)2.05154588
108Decreased circulating renin level (HP:0003351)2.05113167
109Distal upper limb amyotrophy (HP:0007149)2.04703570
110Upper limb amyotrophy (HP:0009129)2.04703570
111Intestinal atresia (HP:0011100)2.03285980
112Tongue fasciculations (HP:0001308)2.02832662
113Hepatocellular necrosis (HP:0001404)2.01963606
114Retinal atrophy (HP:0001105)2.01321672
115Mitral stenosis (HP:0001718)2.00523623
116Ependymoma (HP:0002888)1.99474154
117Focal dystonia (HP:0004373)1.98303644
118Neoplasm of the heart (HP:0100544)1.95484906
119Cervical subluxation (HP:0003308)1.95275128
120Long toe (HP:0010511)1.94874990
121Astrocytoma (HP:0009592)1.94869538
122Abnormality of the astrocytes (HP:0100707)1.94869538
123Unilateral renal agenesis (HP:0000122)1.93488597
124Progressive neurologic deterioration (HP:0002344)1.92632812
125Mutism (HP:0002300)1.92170824
126Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.91401162
127Opisthotonus (HP:0002179)1.91005631
128Global brain atrophy (HP:0002283)1.90198372
129Secondary amenorrhea (HP:0000869)1.89763618
130Reduced subcutaneous adipose tissue (HP:0003758)1.89707884
131Abnormality of urine glucose concentration (HP:0011016)1.88821831
132Glycosuria (HP:0003076)1.88821831
133Increased cerebral lipofuscin (HP:0011813)1.88637016
134Prolonged QT interval (HP:0001657)1.88439529
135Truncal ataxia (HP:0002078)1.86969402
136Spinal canal stenosis (HP:0003416)1.86745338
137Abnormality of the common coagulation pathway (HP:0010990)1.86042233
138Abnormality of proline metabolism (HP:0010907)1.85931463
139Hydroxyprolinuria (HP:0003080)1.85931463
140Cutaneous melanoma (HP:0012056)1.85770925
141Bradycardia (HP:0001662)1.85428606
142Craniofacial dystonia (HP:0012179)1.84976237
143Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.84441361
144Cerebral edema (HP:0002181)1.83724321
145Severe visual impairment (HP:0001141)1.83537126
146Atonic seizures (HP:0010819)1.83160593
147Psychosis (HP:0000709)1.82662544
148Testicular atrophy (HP:0000029)1.82483518
149Nausea (HP:0002018)1.81935352
150Absent rod-and cone-mediated responses on ERG (HP:0007688)1.80856804
151Epileptic encephalopathy (HP:0200134)1.79532561
152Death in childhood (HP:0003819)1.79253861
153Abnormal EKG (HP:0003115)1.77009937
154Conjunctival hamartoma (HP:0100780)1.76632806
155Muscular hypotonia of the trunk (HP:0008936)1.76476768
156Hypoventilation (HP:0002791)1.75516841
157Prominent metopic ridge (HP:0005487)1.74488279
158Hypophosphatemia (HP:0002148)1.72168993
159Abnormality of the level of lipoprotein cholesterol (HP:0010979)1.71013668
160Anosmia (HP:0000458)1.70424057
161Proximal tubulopathy (HP:0000114)1.70420379
162Abnormality of methionine metabolism (HP:0010901)1.70316659
163Abnormal rod and cone electroretinograms (HP:0008323)1.69965508
164Hematochezia (HP:0002573)1.69875749
165Redundant skin (HP:0001582)1.69592825
166Esophageal neoplasm (HP:0100751)1.69487268
167Neoplasm of head and neck (HP:0012288)1.69487268
168Abnormality of fatty-acid metabolism (HP:0004359)1.68702597
169Methylmalonic aciduria (HP:0012120)1.68286557
170Abnormal social behavior (HP:0012433)1.65284131
171Impaired social interactions (HP:0000735)1.65284131
172Neoplasm of the adrenal gland (HP:0100631)1.64839788
173Dysautonomia (HP:0002459)1.63110796
174Abnormal pancreas size (HP:0012094)1.62947386
175Poor eye contact (HP:0000817)1.62933292
176* Type II diabetes mellitus (HP:0005978)1.62421084
177Irritability (HP:0000737)1.60893322
178Deep palmar crease (HP:0006191)1.59844473
179Asymmetric septal hypertrophy (HP:0001670)1.59747994
180Cardiomegaly (HP:0001640)1.58971208
181Abnormal eating behavior (HP:0100738)1.58821225
182Failure to thrive in infancy (HP:0001531)1.58201279

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ERN13.72128433
2NTRK33.67585891
3INSRR3.60244066
4MAP3K123.44268747
5EIF2AK33.37920379
6TAOK33.12514830
7TRIM283.05427464
8MST42.92878289
9TESK12.76288579
10DAPK22.23620481
11TRIB32.21381938
12NEK92.15285872
13PRKD32.09522535
14MUSK2.07841437
15MINK12.07768158
16MAP3K92.03580542
17PLK22.00128148
18ACVR1B1.98287281
19PDK21.97996881
20MAP3K21.97147064
21MAP3K11.95458031
22KSR21.94679670
23MAP4K21.90524095
24TIE11.88595612
25PASK1.85392283
26BMPR1B1.85360226
27DDR21.77950323
28BCKDK1.77156313
29PRPF4B1.73478755
30GRK11.73212824
31EIF2AK11.68899169
32MKNK21.63858264
33MAP3K111.63657273
34CAMKK11.56077716
35HIPK21.55440173
36FRK1.55393970
37MAP3K41.52299056
38SIK31.51717182
39RIPK11.50170967
40CCNB11.49124187
41NTRK11.48145042
42ADRBK21.47057358
43NUAK11.45181990
44MAP2K41.45126470
45SCYL21.44083946
46CAMKK21.42341497
47UHMK11.40747112
48PRKCH1.39825073
49TNIK1.38619100
50RPS6KA21.38530443
51MARK11.37873498
52CSNK1G11.37225803
53DAPK11.36543955
54CDC42BPA1.33660916
55MAP2K71.28657507
56PKN21.27248490
57PINK11.26497968
58TAOK21.25506410
59BRSK21.20793900
60STK161.17803805
61BRSK11.13847342
62SIK21.13321470
63TSSK61.12966559
64PRKCE1.12590744
65LIMK11.09325569
66ROCK11.08231098
67STK38L1.07898058
68PRKAA21.06448455
69NTRK21.05148391
70STK391.02075245
71PTK2B1.00919281
72RET1.00603000
73PBK1.00435279
74CSNK1G31.00036941
75ERBB40.99892133
76PAK60.98389047
77LMTK20.97719509
78ADRBK10.97363844
79PTK60.95637203
80FGFR40.95147790
81CASK0.94820995
82ABL20.94190154
83CDK50.94135873
84PAK30.92537046
85KSR10.91468253
86FES0.90929812
87PAK40.88425514
88STK240.87491007
89SGK2230.87139829
90SGK4940.87139829
91PAK20.85581083
92CSNK1G20.84896422
93MAP3K30.84017233
94FLT30.82968548
95TAOK10.80476936
96SIK10.79691451
97MAPKAPK30.79345054
98MAPK150.77580033
99ERBB30.76817896
100BUB10.76669539
101MET0.76505623
102WNK40.73318553
103CSNK1A1L0.72206075
104PDGFRA0.71733325
105PRKCG0.71412010
106TGFBR20.71143359
107SYK0.69943995
108PRKCI0.68970448
109CAMK1D0.68282287
110OXSR10.67754180
111PLK30.66504076
112PRKCZ0.65839310
113WNK30.65238595
114ILK0.65099972
115DAPK30.64851477
116CAMK10.64464014
117RIPK40.63828473
118NLK0.62985678
119BCR0.61579186
120PIM20.61075533
121CAMK1G0.59664971
122GSK3A0.59290783
123PLK40.58015617
124EPHB10.57860496
125PDPK10.57726431
126GRK50.57054866
127MYLK0.55599230
128MAP3K130.54687819
129IRAK30.54105630
130JAK20.53980429
131MST1R0.53678076
132STK110.52561438
133SGK30.52196902
134PIK3CG0.51126034
135STK30.49758252
136STK380.47410940
137MAP2K60.46942667
138ALK0.46524571
139CAMK40.44910845
140PRKAA10.44646424
141PRKD10.43885345
142ARAF0.42766309
143PRKACG0.42142652
144JAK10.41878517
145AKT20.40561578
146FGFR20.40027723
147SGK20.40001993
148NME10.39880771
149RAF10.39720468
150PHKG10.39623113
151PHKG20.39623113
152PAK10.39620596
153EGFR0.39411275
154MAP4K10.39408364
155FER0.39058125
156MAP2K10.38954996
157CDK180.37695974
158CAMK2A0.37503324
159ABL10.37371823
160PRKG20.37246588
161MAPK130.36667057
162PDK10.36156360
163AKT30.35186803
164CAMK2D0.34764858
165ZAP700.34454767
166PRKD20.33878590
167PTK20.33772248
168CDK140.32701280

Predicted pathways (KEGG)

RankGene SetZ-score
1Maturity onset diabetes of the young_Homo sapiens_hsa049504.49692376
2Synaptic vesicle cycle_Homo sapiens_hsa047213.15531709
3Fatty acid elongation_Homo sapiens_hsa000622.96100147
4Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.81709718
5Sulfur relay system_Homo sapiens_hsa041222.69718394
6Insulin secretion_Homo sapiens_hsa049112.65939195
7Proteasome_Homo sapiens_hsa030502.46390109
8Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.46373989
9Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005202.39597603
10Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.35295645
11Vibrio cholerae infection_Homo sapiens_hsa051102.22781281
12Protein export_Homo sapiens_hsa030602.21815755
13Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.13823387
14Type II diabetes mellitus_Homo sapiens_hsa049302.07148542
15* Terpenoid backbone biosynthesis_Homo sapiens_hsa009002.05165923
16Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.94769703
17Propanoate metabolism_Homo sapiens_hsa006401.87279121
18Collecting duct acid secretion_Homo sapiens_hsa049661.83169313
19PPAR signaling pathway_Homo sapiens_hsa033201.82818885
20GABAergic synapse_Homo sapiens_hsa047271.77952720
21Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.77426005
22Cocaine addiction_Homo sapiens_hsa050301.76474498
23Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.70543233
24Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.60751002
25Circadian entrainment_Homo sapiens_hsa047131.59944267
26Amphetamine addiction_Homo sapiens_hsa050311.56510805
27Dopaminergic synapse_Homo sapiens_hsa047281.55086269
28Fatty acid biosynthesis_Homo sapiens_hsa000611.54430607
29Phototransduction_Homo sapiens_hsa047441.50696249
30Lysine degradation_Homo sapiens_hsa003101.48123705
31Vitamin B6 metabolism_Homo sapiens_hsa007501.47766959
32Carbohydrate digestion and absorption_Homo sapiens_hsa049731.46992578
33Sulfur metabolism_Homo sapiens_hsa009201.44899020
34Glycerolipid metabolism_Homo sapiens_hsa005611.42964466
35Morphine addiction_Homo sapiens_hsa050321.42823412
36Nitrogen metabolism_Homo sapiens_hsa009101.42683607
37Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.36945483
38Glutathione metabolism_Homo sapiens_hsa004801.35734190
39Arginine biosynthesis_Homo sapiens_hsa002201.34901165
40beta-Alanine metabolism_Homo sapiens_hsa004101.33689860
41Cholinergic synapse_Homo sapiens_hsa047251.32377563
42Olfactory transduction_Homo sapiens_hsa047401.32026358
43Steroid biosynthesis_Homo sapiens_hsa001001.30155850
44Long-term potentiation_Homo sapiens_hsa047201.27764991
45Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.27706706
46Type I diabetes mellitus_Homo sapiens_hsa049401.27509458
47N-Glycan biosynthesis_Homo sapiens_hsa005101.26306041
48Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.24411472
49Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.22109245
50Aldosterone synthesis and secretion_Homo sapiens_hsa049251.21371202
51Lysosome_Homo sapiens_hsa041421.20253974
52Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.18883278
53Fat digestion and absorption_Homo sapiens_hsa049751.16957656
54Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.16405347
55Taste transduction_Homo sapiens_hsa047421.10106556
56Glutamatergic synapse_Homo sapiens_hsa047241.07614777
57Mineral absorption_Homo sapiens_hsa049781.06291673
58Sphingolipid metabolism_Homo sapiens_hsa006001.06244609
59Butanoate metabolism_Homo sapiens_hsa006501.05552341
60Pancreatic secretion_Homo sapiens_hsa049721.01929246
61Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.98246859
62Prion diseases_Homo sapiens_hsa050200.94958646
63Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.94358157
64Gastric acid secretion_Homo sapiens_hsa049710.91789913
65RNA polymerase_Homo sapiens_hsa030200.91700778
662-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.90781601
67Glycosaminoglycan degradation_Homo sapiens_hsa005310.88838227
68Primary bile acid biosynthesis_Homo sapiens_hsa001200.88605967
69Galactose metabolism_Homo sapiens_hsa000520.88134400
70Thyroid hormone synthesis_Homo sapiens_hsa049180.88045333
71Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.87867041
72Nicotine addiction_Homo sapiens_hsa050330.87672743
73Tryptophan metabolism_Homo sapiens_hsa003800.87120330
74Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.86774728
75One carbon pool by folate_Homo sapiens_hsa006700.86063235
76Serotonergic synapse_Homo sapiens_hsa047260.85617932
77Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.84708000
78Estrogen signaling pathway_Homo sapiens_hsa049150.82689849
79Glucagon signaling pathway_Homo sapiens_hsa049220.80471012
80Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.80074922
81Selenocompound metabolism_Homo sapiens_hsa004500.79583462
82Bile secretion_Homo sapiens_hsa049760.78482818
83SNARE interactions in vesicular transport_Homo sapiens_hsa041300.77045787
84Phenylalanine metabolism_Homo sapiens_hsa003600.74466644
85Insulin signaling pathway_Homo sapiens_hsa049100.72957997
86Prolactin signaling pathway_Homo sapiens_hsa049170.72886704
87Metabolic pathways_Homo sapiens_hsa011000.71990508
88Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.71685432
89Non-homologous end-joining_Homo sapiens_hsa034500.71558113
90Oxidative phosphorylation_Homo sapiens_hsa001900.71182481
91Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.69808377
92Insulin resistance_Homo sapiens_hsa049310.69495827
93Basal transcription factors_Homo sapiens_hsa030220.67236415
94Tyrosine metabolism_Homo sapiens_hsa003500.66909955
95Starch and sucrose metabolism_Homo sapiens_hsa005000.66264813
96Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.66124601
97Fructose and mannose metabolism_Homo sapiens_hsa000510.65285182
98Glioma_Homo sapiens_hsa052140.64632842
99mTOR signaling pathway_Homo sapiens_hsa041500.63652218
100ABC transporters_Homo sapiens_hsa020100.63133994
101Salivary secretion_Homo sapiens_hsa049700.61581365
102GnRH signaling pathway_Homo sapiens_hsa049120.61049225
103Longevity regulating pathway - mammal_Homo sapiens_hsa042110.59923314
104Phosphatidylinositol signaling system_Homo sapiens_hsa040700.59660403
105Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.59107577
106Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.58589789
107Arginine and proline metabolism_Homo sapiens_hsa003300.58024471
108Adipocytokine signaling pathway_Homo sapiens_hsa049200.57595254
109Fatty acid degradation_Homo sapiens_hsa000710.57512083
110AMPK signaling pathway_Homo sapiens_hsa041520.57436125
111Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.56331832
112Gap junction_Homo sapiens_hsa045400.55527799
113Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.55420319
114Pentose phosphate pathway_Homo sapiens_hsa000300.54821080
115Peroxisome_Homo sapiens_hsa041460.53032960
116Renin secretion_Homo sapiens_hsa049240.52243843
117Long-term depression_Homo sapiens_hsa047300.52202744
118cAMP signaling pathway_Homo sapiens_hsa040240.52148163
119cGMP-PKG signaling pathway_Homo sapiens_hsa040220.51292177
120Pyrimidine metabolism_Homo sapiens_hsa002400.50643174
121Folate biosynthesis_Homo sapiens_hsa007900.50214099
122Regulation of autophagy_Homo sapiens_hsa041400.47792718
123Inositol phosphate metabolism_Homo sapiens_hsa005620.47331305
124Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.46806596
125Oxytocin signaling pathway_Homo sapiens_hsa049210.46598269
126Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.46305672
127Neurotrophin signaling pathway_Homo sapiens_hsa047220.44650001
128Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.44550186
129Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.43277255
130Cardiac muscle contraction_Homo sapiens_hsa042600.42902490
131Thyroid hormone signaling pathway_Homo sapiens_hsa049190.41895375
132Pentose and glucuronate interconversions_Homo sapiens_hsa000400.40401998
133Non-small cell lung cancer_Homo sapiens_hsa052230.39988811
134Other glycan degradation_Homo sapiens_hsa005110.39859902
135ErbB signaling pathway_Homo sapiens_hsa040120.39192007
136Pyruvate metabolism_Homo sapiens_hsa006200.38183319
137Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.37987720
138Biosynthesis of amino acids_Homo sapiens_hsa012300.37307110
139Endometrial cancer_Homo sapiens_hsa052130.37132943
140Carbon metabolism_Homo sapiens_hsa012000.36826482
141Phagosome_Homo sapiens_hsa041450.35407693
142ECM-receptor interaction_Homo sapiens_hsa045120.35002240
143Circadian rhythm_Homo sapiens_hsa047100.34850961
144Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.34259406
145Fatty acid metabolism_Homo sapiens_hsa012120.33489041
146Parkinsons disease_Homo sapiens_hsa050120.32628184
147Retinol metabolism_Homo sapiens_hsa008300.29963267
148Vitamin digestion and absorption_Homo sapiens_hsa049770.27896254
149Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.25040416
150Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.24099351
151Tight junction_Homo sapiens_hsa045300.24087116
152Huntingtons disease_Homo sapiens_hsa050160.23733353
153Purine metabolism_Homo sapiens_hsa002300.22921593
154TGF-beta signaling pathway_Homo sapiens_hsa043500.17063841
155Alzheimers disease_Homo sapiens_hsa050100.16709146
156Glycerophospholipid metabolism_Homo sapiens_hsa005640.16023340

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